Full data view for gene WDR37

Information The variants shown are described using the NM_014023.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - likely benign g.1118129C>T - WDR37(NM_014023.3):c.34C>T (p.(Arg12Cys)) - WDR37_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52C>T r.(?) p.(Arg18Cys) Unknown - VUS g.1118147C>T - WDR37(NM_014023.3):c.52C>T (p.(Arg18Cys)) - WDR37_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65G>A r.(?) p.(Ser22Asn) Unknown - likely benign g.1118160G>A - WDR37(NM_014023.3):c.65G>A (p.(Ser22Asn)) - WDR37_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138+9C>T r.(=) p.(=) Unknown - likely benign g.1118242C>T - WDR37(NM_014023.4):c.138+9C>T - WDR37_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139-7_139-5del r.spl? p.? Unknown - VUS g.1123840_1123842del - WDR37(NM_014023.3):c.139-7_139-5delTCT (p.?) - WDR37_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212A>G r.(?) p.(Asn71Ser) Unknown - likely benign g.1123920A>G - WDR37(NM_014023.4):c.212A>G (p.N71S) - WDR37_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332C>G r.(?) p.(Ala111Gly) Unknown - VUS g.1126352C>G - - - WDR37_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356C>A r.(?) p.(Ser119Tyr) Unknown - VUS g.1126376C>A - - - WDR37_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.356C>T r.(?) p.(Ser119Phe) Unknown - pathogenic (dominant) g.1126376C>T g.1080436C>T - - WDR37_000002 - PubMed: Kanca 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Pat3 PubMed: Kanca 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.356C>T r.(?) p.(Ser119Phe) Unknown - pathogenic (dominant) g.1126376C>T g.1080436C>T - - WDR37_000002 - PubMed: Reis 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Fam1 PubMed: Reis 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States white, European - - - - 1 Johan den Dunnen
+/. - c.356C>T r.(?) p.(Ser119Phe) Unknown - pathogenic g.1126376C>T g.1080436C>T - - WDR37_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.373A>G r.(?) p.(Thr125Ala) Unknown - VUS g.1126393A>G - WDR37(NM_014023.4):c.373A>G (p.T125A) - WDR37_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.374C>T r.(?) p.(Thr125Ile) Unknown - pathogenic (dominant) g.1126394C>T g.1080454C>T - - WDR37_000003 - PubMed: Kanca 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Pat1 PubMed: Kanca 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.374C>T r.(?) p.(Thr125Ile) Unknown - pathogenic (dominant) g.1126394C>T g.1080454C>T - - WDR37_000003 - PubMed: Reis 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Fam3 PubMed: Reis 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States white, European - - - - 1 Johan den Dunnen
+/. - c.386C>G r.(?) p.(Ser129Cys) Unknown - pathogenic (dominant) g.1126406C>G g.1080466C>G - - WDR37_000004 - PubMed: Kanca 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Pat2 PubMed: Kanca 2019 2-generation family, 1 affected, unaffected non-carrier parents F - Australia - - - - - 1 Johan den Dunnen
+/. - c.386C>G r.(?) p.(Ser129Cys) Unknown - pathogenic (dominant) g.1126406C>G g.1080466C>G - - WDR37_000004 - PubMed: Kanca 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Pat4 PubMed: Kanca 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.386C>G r.(?) p.(Ser129Cys) Unknown - pathogenic (dominant) g.1126406C>G g.1080466C>G - - WDR37_000004 - PubMed: Reis 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Fam4 PubMed: Reis 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.389C>T r.(?) p.(Thr130Ile) Unknown - pathogenic (dominant) g.1126409C>T g.1080469C>T - - WDR37_000005 - PubMed: Kanca 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Pat5 PubMed: Kanca 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.389C>T r.(?) p.(Thr130Ile) Unknown - pathogenic (dominant) g.1126409C>T g.1080469C>T - - WDR37_000005 - PubMed: Reis 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Fam2 PubMed: Reis 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States white, European - - - - 1 Johan den Dunnen
?/. - c.460G>A r.(?) p.(Gly154Ser) Unknown - VUS g.1130406G>A - WDR37(NM_014023.3):c.460G>A (p.(Gly154Ser)) - WDR37_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.499A>C r.(?) p.(Thr167Pro) Unknown - likely benign g.1130445A>C - WDR37(NM_014023.3):c.499A>C (p.(Thr167Pro)) - WDR37_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556A>G r.(?) p.(Ile186Val) Unknown - VUS g.1132249A>G - WDR37(NM_014023.4):c.556A>G (p.I186V) - WDR37_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659A>G r.(?) p.(Asp220Gly) Unknown - VUS g.1142119A>G g.1096179A>G WDR37(NM_014023.3):c.659A>G (p.D220G) - WDR37_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814G>A r.(?) p.(Val272Ile) Unknown - likely benign g.1149629G>A - WDR37(NM_014023.4):c.814G>A (p.(Val272Ile)) - WDR37_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.946G>A r.(?) p.(Val316Ile) Unknown - likely benign g.1149761G>A - WDR37(NM_014023.4):c.946G>A (p.V316I) - WDR37_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962-2A>G r.spl? p.? Unknown - VUS g.1151064A>G - - - WDR37_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131G>A r.(?) p.(=) Unknown - likely benign g.1170185G>A - WDR37(NM_014023.4):c.1131G>A (p.(Val377=)) - WDR37_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181A>T r.(?) p.(Asp394Val) Unknown - VUS g.1170235A>T - WDR37(NM_014023.3):c.1181A>T (p.(Asp394Val)) - WDR37_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381G>T r.(?) p.(Ala461Ser) Unknown - VUS g.1175180G>T - WDR37(NM_014023.4):c.1381G>T (p.A461S) - WDR37_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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